|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Canavan Syndrome
|
ASPA Mutation Analysis (Y231X, E285A, A305E)
|
43-63%
|
2 Months
|
|
|
ASPA Whole Gene Analysis
|
87%
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Canavan-Van Bogaert-Bertrand Disease
- Spongy Degeneration Of Central Nervous System
- Aspartoacylase Deficiency
- ASPA Deficiency
- ASP Deficiency
- Aminoacylase 2 Deficiency
- ACY2 Deficiency
|
271900
|
Autosomal Recessive
|
ASPA (ACY2)
|
608034
|
17p13.3
|
Aspartoacylase
|
|
DNA
|
CDS
|
Exon
|
|
23.00 kb
|
942 bp
|
6
|
|
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
BloodEDTA
|
5 ml
|
Lavender-top
|
18-24 C0
|
Frozen, hemolyzed specimens
|
The sample should be send with written consent of the patient.
|
|
| |
|
|
Last Updated on Wednesday, 20 April 2011 15:37 |
